"Treatment and prognosis "
"History and etymology "
"Axenfeld anomaly: posterior embryotoxon and peripheral irido-corneal adhesions"
"Rieger anomaly: findings of Axenfeld anomaly along with corectopia (malposition of pupil), iris thinning and hole in iris"
"Rieger anomaly: findings of Axenfeld anomaly along with corectopia (malposition of pupil), iris thinning and hole in iris"
"The syndrome is named after Theodor Axenfeld, a German ophthalmologist who described it in 1920 2. Rieger also described it in 1934 2."
"The syndrome is named after Theodor Axenfeld, a German ophthalmologist who described it in 1920 2. Rieger also described it in 1934 2."
"The syndrome is rare with an incidence of 1:200000 live births 2. 40-70% of the cases have an associated FOXC1 or PITX2 genetic mutations 3. There is no gender predilection 4."
"The syndrome is rare with an incidence of 1:200000 live births 2. 40-70% of the cases have an associated FOXC1 or PITX2 genetic mutations 3. There is no gender predilection 4."
"PITX2: normally activates DlX2 gene, which is responsible for craniofacial and tooth development 2; PITX2 mutation leads to maxillary and mandibular hypoplasia along with tooth abnormalities 2"
"FOXC1: responsible for the migration and differentiation of mesenchymal cells and mutation in this gene leads to cardiac anomalies and thyroid dysfunction 2"
"ocular anomalies, e.g. glaucoma, iris hypoplasia, posterior embryotoxon and corneal opacities"
"dental anomalies, e.g. oligodontia, delayed tooth eruption, hypoplastic enamels and molars, peg shaped teeth"
"Given Axenfeld-Rieger syndrome is so heterogenous, the radiographic features ultimately matches the clinical presentation for any given patient. For example, regarding dental anomalies, patients with Axenfeld-Rieger syndrome have unerupted teeth, oligodontia and microdontia visible on orthopantomogram 2."
Expected headings
"Treatment and prognosis "
"History and etymology "
"The syndrome is rare with an incidence of 1:200000 live births 2. 40-70% of the cases have an associated FOXC1 or PITX2 genetic mutations 3. There is no gender predilection 4."
"PITX2: normally activates DlX2 gene, which is responsible for craniofacial and tooth development 2; PITX2 mutation leads to maxillary and mandibular hypoplasia along with tooth abnormalities 2"
"Given Axenfeld-Rieger syndrome is so heterogenous, the radiographic features ultimately matches the clinical presentation for any given patient. For example, regarding dental anomalies, patients with Axenfeld-Rieger syndrome have unerupted teeth, oligodontia and microdontia visible on orthopantomogram 2."
"Congenital glaucoma may lead to blindness and requires management using beta-blockers or carbonic anhydrase inhibitors 3,4. Surgical management is by trabeculectomy, goniotomy or trabeculotomy 3,4. Hydrocephalus, when present, may require surgical management 1."